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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4101 - 4125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1768	conversion disorder Aliases: Conversion Hysterical Neurosis Conversion hysteria or reaction Hysterical neurosis, conversion type	ABO ACHE COMT MMUT PIK3CA PRNP	1312 28 43 4594 5290 5621	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3 MPDU1 PMM2	10195 5373 9526	Homo sapiens (human)
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	Homo sapiens (human)
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:9254	mast-cell leukemia	ACLY CD33 ENPP3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMPD1	47 5169 5290 5291 5293 5294 5743 6609 945	Homo sapiens (human)
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB IDUA	2990 3425	Homo sapiens (human)
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS EXT1 FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2131 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	PTEN	5728	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:0110843	xeroderma pigmentosum group A Aliases: XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A	CAT COMT CYP1A1 CYP1B1 HPGDS HPRT1 OGG1 PARP1 PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 142 1543 1545 23583 27306 3251 4968 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H Aliases: LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:10426	Klippel-Feil syndrome Aliases: Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)
DOID:4766	embryoma Aliases: Blastoma	A4GALT A4GNT ABAT ABO ACACA ACACB ACADL ACADS ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOT8 ACSBG1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS1 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGK AGPAT1 AGPAT2 AGPS AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDH9A1 ALDOA ALG2 ALG3 ALOX12 ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR AMT AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSA ARSB ARSF ARSG ART1 ASAH1 ATP6AP2 B3GALNT2 B3GAT1 B3GNT3 B3GNT6 B4GALNT1 B4GALNT2 B4GALNT3 B4GALNT4 B4GALT1 B4GALT3 B4GALT5 BAAT BCKDHB BPHL BST1 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD209 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERS1 CERS2 CERS4 CERS5 CERS6 CFC1 CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPF CHPT1 CHST15 CHST3 CHSY1 CLC CLEC10A CLEC12A CLEC12B CLEC14A CLEC18B CLEC1B CLEC3A CLEC6A CLEC7A CMAS CNTN1 CNTN2 CNTN3 COMT CPM CPT1A CPT1B CPT1C CPT2 CRYBG3 CRYL1 CS CSPG4 CTSA CYB5R3 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4A11 CYP4F2 CYP4F3 CYP51A1 CYP7B1 DAD1 DAG1 DBT DCN DEGS1 DGCR2 DGKA DGKB DGKD DGKE DGKZ DHCR24 DHDDS DHRS11 DLD DPEP1 DSE EBP ECHS1 EFNA1 EFNA2 EFNA5 ELOVL5 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 ENPP3 EPHX2 EPM2A EXT1 EXTL1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN1 FCN2 FDFT1 FDPS FH FKTN FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 FUT9 G6PC1 G6PC3 G6PD GAD1 GAD2 GAL3ST1 GALC GALNS GALNT11 GALNT12 GALNT14 GALNT2 GALNT3 GALNT5 GALNT6 GALNT7 GAPDH GAPDHS GAS1 GBA1 GBE1 GBGT1 GCK GCNT1 GCNT3 GCSH GDPD5 GFPT1 GFPT2 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GM2A GMDS GML GNPAT GNPTAB GOLPH3 GPAA1 GPAM GPC1 GPC2 GPC3 GPC6 GPD1 GPD2 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB HACD1 HADH HADHB HAO2 HAS1 HAS2 HEXA HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST1 HS3ST2 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B6 HSD17B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 ICAM2 ICAM5 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 IMPA2 INPP1 INPP4A INPP4B INPP5D INPP5E INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LALBA LARGE2 LAYN LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LIPG LPCAT1 LPIN1 LPL LSS LTA4H LY6K LY75 LYPD3 LYPD5 LYPLA1 M6PR MACROD1 MACROD2 MAG MAN2A1 MANEA MASP2 MBD4 MBL2 MCAT MCFD2 MDGA2 MDH1 MDH2 ME1 ME2 MELTF MGAM MGAT1 MGAT3 MGAT4A MGAT4B MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MPI MPPE1 MRC1 MSLN MSMO1 MTAP MTM1 MTMR3 MTMR7 MUTYH NAAA NAGA NAGLU NAMPT NANS NCAM1 NDST1 NDST4 NDUFAB1 NEIL1 NEIL2 NEIL3 NEU1 NEU3 NEU4 NGLY1 NT5E NTHL1 NTM NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OVGP1 OXCT1 PAFAH1B1 PAFAH1B2 PAPSS1 PARG PARP14 PARP15 PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCK1 PCK2 PCYT1A PCYT1B PCYT2 PDHA1 PDHX PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP2 PGD PGK1 PGM1 PGP PI4K2A PIGA PIGH PIGS PIGU PIGX PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2B PIP4K2C PIP5K1B PIP5KL1 PISD PKD1 PKD2 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB2 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLET1 PLOD3 PLPP1 PLPP2 PLPP3 PMM2 PNP PNPLA2 PNPLA3 PNPLA6 POGLUT1 POMT2 PPP1R3A PPP1R3B PPP1R3C PPT1 PPT2 PRG2 PRG3 PRKAA2 PRNP PRPS1 PRPS2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGB RECK RENBP RGMA RGMB RGN RPE RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SGMS2 SGPL1 SGPP1 SGPP2 SGSH SHMT1 SHMT2 SI SIGLEC15 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A2 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA2 ST8SIA3 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TDG TEX101 THEM4 TIGAR TIPARP TKT TKTL1 TKTL2 TM7SF2 TMED5 TMEM165 TMEM260 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGGT1 UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2A1 UGT2B10 UGT2B17 UGT2B4 UGT2B7 UGT8 ULBP1 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VNN2 VTCN1 XYLT2	10005 10038 10039 100507436 10082 100861540 1012 10135 10143 10159 10195 10232 10327 10331 10394 1040 10434 10457 10462 1048 10554 10555 10558 10559 1056 10610 10682 10690 10715 10724 10728 10747 10825 10855 1087 10908 10941 10998 1109 1113 11141 11145 1116 11164 1118 11181 1119 11226 11227 11282 11320 11332 11343 113612 115290 117145 1178 120071 120227 124 124872 125 126 126129 127 1272 128 128869 129807 130 130367 131 1312 131544 135228 1368 1374 1375 1376 138429 140733 142 143 1431 143903 1462 1464 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1585 1586 1588 1591 1593 159371 1594 1595 1603 160364 1604 1605 1606 1607 161198 161357 1629 1634 1636 1645 1646 165631 166929 1718 1727 1738 18 1800 1836 1890 1892 192134 1942 1943 1946 200576 2023 2026 2053 2131 2134 217 218 2181 2182 2194 220 2203 2215 2218 2219 221914 2220 2222 2224 223 226 2271 22856 22901 22914 22918 22925 22933 231 23175 23205 23213 2331 23409 2348 2350 23583 23600 23659 23761 239 240 246 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2542 2571 2572 2581 2583 2588 2590 2591 259230 2597 25976 26035 2619 26279 2629 26301 2632 26330 2645 2650 26503 2653 2673 2674 2678 2683 27036 27076 27087 27163 27180 2719 2720 27306 2731 27315 27349 2739 275 2752 276 2760 2762 2765 277 278 28 2817 2819 2820 2821 2822 283358 283871 284266 284348 285362 285704 2876 2877 2878 2882 28992 29071 2923 2990 29940 29954 29956 3032 3033 3036 3037 307 3073 308 30835 3098 3099 31 310 3158 3161 32 3251 3290 3291 3292 3294 33 3339 3340 3373 3383 3384 338707 3417 3418 3423 3425 3482 349633 35 353 3554 3612 3613 3628 3631 3635 3636 3706 3707 375790 3795 38 3820 3821 3824 387837 3897 3906 3938 3939 3945 3948 3956 3958 3960 3964 3965 3990 3992 4023 4047 4048 4051 4065 4074 4099 410 411 412 4124 4153 416 417 4190 4191 4199 4200 4241 4245 4248 4249 427 43 4326 4350 4351 4360 4507 4534 4594 4595 4668 4669 4680 4684 47 4706 4758 48 4860 4907 4913 4967 4968 497190 4973 4978 50 501 5016 5019 5048 50487 5049 5067 50863 5091 50999 51046 5105 5106 51084 51144 51146 51179 51196 51266 5130 51363 51477 51478 51548 5160 5167 5168 5169 51703 51809 5208 5209 5210 5213 5214 5223 5226 5230 5236 5277 5283 5286 5288 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5373 53947 54187 54480 54575 54576 54577 54578 54579 54600 54625 54657 54658 54659 54742 5476 54916 54965 5506 5507 55247 55361 5538 55512 5552 5553 55556 5563 55750 55753 55757 55768 55799 55808 55858 55902 55907 55959 55997 5621 5631 5634 5652 5660 56623 56848 56886 56913 56963 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57678 5833 5834 594 5973 60481 6120 6185 6296 6307 6319 6382 6383 6385 6389 6390 6391 63917 6392 6401 6402 6403 64083 64132 64386 6440 6441 6448 64579 64581 6470 6472 6476 6480 6482 6484 6487 65078 6514 6515 6517 6518 6523 65258 653509 6609 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 683 684 6900 6996 7086 7087 7108 7167 729238 7355 7357 7363 7364 7365 7367 7368 7372 7374 7378 7412 781 7903 79154 79158 7957 79586 79603 79611 79623 79660 79661 79679 79694 79695 79837 79888 7991 79947 79966 80201 80328 80329 80339 8050 811 8128 81537 81544 81849 821 8277 83639 83666 8372 8395 8396 8398 8399 84076 8434 8443 84532 847 84725 8473 8482 8505 8525 8526 8527 8529 85365 8540 8560 8611 8612 8613 8630 8644 8658 8692 8703 873 8733 8794 8809 8821 8875 8876 8877 8879 8897 8930 8972 8985 90411 9061 91012 9104 9108 912 9126 9197 9200 9245 9254 92579 929 933 9334 9365 9374 9388 93978 94005 9415 9420 945 9468 9469 9514 952 9536 960 962 9672 972 98 9945 9956 9957 9993	Homo sapiens (human)
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)
DOID:10047	nodular malignant melanoma Aliases: nodular melanoma	MTAP	4507	Homo sapiens (human)
DOID:299	adenocarcinoma	A4GALT A4GNT ABO ACACA ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GALT1 B3GALT5 BAAT C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST3 CHST5 CNTN1 COMT CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 ENPP7 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 FUT8 G6PC1 G6PD GAL3ST1 GALNS GALNT12 GALNT3 GALNT6 GCNT1 GFRA2 GGT1 GLUL GPC1 GPC3 GPNMB GPX1 GPX2 GPX3 GUSB HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LMAN1 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGAT5 MGLL MICA MMP17 MPG MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E NTHL1 OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDC2 SDHB SDHC SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC26A2 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SORD SPHK1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT1A1 UGT1A6 UGT2B17 UGT8 VCAM1 VCAN VTCN1	100507436 1012 10135 10159 10232 10317 10327 10457 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1594 1604 1605 1636 1646 1718 1738 1836 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 231 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2530 2538 2539 2588 2591 2650 2675 2678 2719 27306 27349 2752 276 277 278 28 2817 283871 284348 2876 2877 2878 2923 2990 3036 3037 3038 308 31 310 3283 3290 3291 3292 3383 339221 3417 3418 3482 353 38 3939 3945 3958 3960 3998 4023 4048 4069 410 412 4199 4249 4326 4350 4360 4507 4595 4669 4680 4684 4758 4907 4913 4968 4973 4978 5095 5096 51146 51196 51477 51478 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 54578 54658 55600 5563 55959 5621 56913 56994 570 57016 57104 5716 57214 5728 5740 5742 5743 60495 6319 6382 6383 6390 6391 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 6652 7086 7167 729238 7367 7368 7412 79679 79695 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8877 8930 8972 9104 9126 9197 9365 9420 9469 9514 9536 960 972	Homo sapiens (human)
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:115	cardiac tamponade Aliases: Rose's tamponade pericardial tamponade	PCYT1A SMUG1 SOAT1	23583 5130 6646	Homo sapiens (human)
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	ACSBG1 AKR1B1 ALDH3A1 ANXA5 CANX CAT CYP19A1 CYP1A1 CYP1B1 G6PD GPX1 HACD1 HK2 HPSE IDH1 INPP4B LGALS1 LYNX1 MMP17 NTHL1 PARP1 PIK3CA PIK3CB PKD1 PTEN PTGS2 SMUG1 TNF UGCG	10855 142 1543 1545 1588 218 231 23205 23583 2539 2876 308 3099 3417 3956 4326 4913 5290 5291 5310 5728 5743 66004 7124 7357 821 847 8821 9200	Homo sapiens (human)

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